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Journal Abstract Search

769 related items for PubMed ID: 29520754

  • 1. Kidney enlargement and multiple liver cyst formation implicate mutations in PKD1/2 in adult sporadic polycystic kidney disease.
    Fujimaru T, Mori T, Sekine A, Mandai S, Chiga M, Kikuchi H, Ando F, Mori Y, Nomura N, Iimori S, Naito S, Okado T, Rai T, Hoshino J, Ubara Y, Uchida S, Sohara E.
    Clin Genet; 2018 Jul; 94(1):125-131. PubMed ID: 29520754
    [Abstract] [Full Text] [Related]

  • 2. Effect of genotype on the severity and volume progression of polycystic liver disease in autosomal dominant polycystic kidney disease.
    Chebib FT, Jung Y, Heyer CM, Irazabal MV, Hogan MC, Harris PC, Torres VE, El-Zoghby ZM.
    Nephrol Dial Transplant; 2016 Jun; 31(6):952-60. PubMed ID: 26932689
    [Abstract] [Full Text] [Related]

  • 3. Pancreatic Cysts in Autosomal Dominant Polycystic Kidney Disease: Prevalence and Association with PKD2 Gene Mutations.
    Kim JA, Blumenfeld JD, Chhabra S, Dutruel SP, Thimmappa ND, Bobb WO, Donahue S, Rennert HE, Tan AY, Giambrone AE, Prince MR.
    Radiology; 2016 Sep; 280(3):762-70. PubMed ID: 27046073
    [Abstract] [Full Text] [Related]

  • 4. PKD1-Associated Arachnoid Cysts in Autosomal Dominant Polycystic Kidney Disease.
    Shigemori K, Higashihara E, Itoh M, Yoshida H, Yamamoto K, Nutahara K, Shiokawa Y, Kaname S, Tambo M, Yamaguchi T, Taguchi S, Yoshioka T, Yokoyama K, Fukuhara H.
    J Stroke Cerebrovasc Dis; 2021 Sep; 30(9):105943. PubMed ID: 34175641
    [Abstract] [Full Text] [Related]

  • 5. Genotype-phenotype of autosomal dominant polycystic kidney disease in Malta.
    Ciantar N, Zahra G, Delicata J, Sammut F, Calleja-Agius J, Farrugia E, Said E.
    Eur J Med Genet; 2024 Jun; 69():104934. PubMed ID: 38537868
    [Abstract] [Full Text] [Related]

  • 6. Identification and Characterization of Novel Mutations in Chronic Kidney Disease (CKD) and Autosomal Dominant Polycystic Kidney Disease (ADPKD) in Saudi Subjects by Whole-Exome Sequencing.
    Alzahrani OR, Alatwi HE, Alharbi AA, Alessa AH, Al-Amer OM, Alanazi AFR, Shams AM, Alomari E, Naser AY, Alzahrani FA, Hosawi S, Alghamdi SM, Abdali WA, Elfaki I, Hawsawi YM.
    Medicina (Kaunas); 2022 Nov 16; 58(11):. PubMed ID: 36422197
    [Abstract] [Full Text] [Related]

  • 7. Exome Sequencing of a Clinical Population for Autosomal Dominant Polycystic Kidney Disease.
    Chang AR, Moore BS, Luo JZ, Sartori G, Fang B, Jacobs S, Abdalla Y, Taher M, Carey DJ, Triffo WJ, Singh G, Mirshahi T.
    JAMA; 2022 Dec 27; 328(24):2412-2421. PubMed ID: 36573973
    [Abstract] [Full Text] [Related]

  • 8. PKD2-Related Autosomal Dominant Polycystic Kidney Disease: Prevalence, Clinical Presentation, Mutation Spectrum, and Prognosis.
    Cornec-Le Gall E, Audrézet MP, Renaudineau E, Hourmant M, Charasse C, Michez E, Frouget T, Vigneau C, Dantal J, Siohan P, Longuet H, Gatault P, Ecotière L, Bridoux F, Mandart L, Hanrotel-Saliou C, Stanescu C, Depraetre P, Gie S, Massad M, Kersalé A, Séret G, Augusto JF, Saliou P, Maestri S, Chen JM, Harris PC, Férec C, Le Meur Y.
    Am J Kidney Dis; 2017 Oct 27; 70(4):476-485. PubMed ID: 28356211
    [Abstract] [Full Text] [Related]

  • 9. Exome sequencing of Saudi Arabian patients with ADPKD.
    Al-Muhanna FA, Al-Rubaish AM, Vatte C, Mohiuddin SS, Cyrus C, Ahmad A, Shakil Akhtar M, Albezra MA, Alali RA, Almuhanna AF, Huang K, Wang L, Al-Kuwaiti F, Elsalamouni TSA, Al Hwiesh A, Huang X, Keating B, Li J, Lanktree MB, Al-Ali AK.
    Ren Fail; 2019 Nov 27; 41(1):842-849. PubMed ID: 31488014
    [Abstract] [Full Text] [Related]

  • 10. Bilineal inheritance of pathogenic PKD1 and PKD2 variants in a Czech family with autosomal dominant polycystic kidney disease - a case report.
    Elisakova V, Merta M, Reiterova J, Baxova A, Kotlas J, Hirschfeldova K, Obeidova L, Tesar V, Stekrova J.
    BMC Nephrol; 2018 Jul 04; 19(1):163. PubMed ID: 29973168
    [Abstract] [Full Text] [Related]

  • 11. Identification of novel mutations and risk assessment of Han Chinese patients with autosomal dominant polycystic kidney disease.
    Zhang M, Liu S, Xia X, Cui Y, Li X.
    Nephrology (Carlton); 2019 May 04; 24(5):504-510. PubMed ID: 29633482
    [Abstract] [Full Text] [Related]

  • 12. Relationship of Seminal Megavesicles, Prostate Median Cysts, and Genotype in Autosomal Dominant Polycystic Kidney Disease.
    Zhang W, Stephens CJ, Blumenfeld JD, Behzadi AH, Donahue S, Bobb WO, Newhouse JH, Rennert H, Zhao Y, Prince MR.
    J Magn Reson Imaging; 2019 Mar 04; 49(3):894-903. PubMed ID: 30230107
    [Abstract] [Full Text] [Related]

  • 13. Demographic and clinical characteristics of children with autosomal dominant polycystic kidney disease: a single center experience.
    Kasap Demir B, Mutlubaş F, Soyaltın E, Alparslan C, Arya M, Alaygut D, Arslansoyu Çamlar S, Berdeli A, Yavaşcan Ö.
    Turk J Med Sci; 2021 Apr 30; 51(2):772-777. PubMed ID: 33315352
    [Abstract] [Full Text] [Related]

  • 14. Predicted Mutation Strength of Nontruncating PKD1 Mutations Aids Genotype-Phenotype Correlations in Autosomal Dominant Polycystic Kidney Disease.
    Heyer CM, Sundsbak JL, Abebe KZ, Chapman AB, Torres VE, Grantham JJ, Bae KT, Schrier RW, Perrone RD, Braun WE, Steinman TI, Mrug M, Yu AS, Brosnahan G, Hopp K, Irazabal MV, Bennett WM, Flessner MF, Moore CG, Landsittel D, Harris PC, HALT PKD and CRISP Investigators.
    J Am Soc Nephrol; 2016 Sep 30; 27(9):2872-84. PubMed ID: 26823553
    [Abstract] [Full Text] [Related]

  • 15. Novel PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease (ADPKD).
    Hoefele J, Mayer K, Scholz M, Klein HG.
    Nephrol Dial Transplant; 2011 Jul 30; 26(7):2181-8. PubMed ID: 21115670
    [Abstract] [Full Text] [Related]

  • 16. Autosomal dominant polycystic kidney disease (ADPKD) in Tunisia: From molecular genetics to the development of prognostic tools.
    Abdelwahed M, Hilbert P, Ahmed A, Dey M, Bouomrani S, Kamoun H, Ammar-Keskes L, Belguith N.
    Gene; 2022 Apr 05; 817():146174. PubMed ID: 35031424
    [Abstract] [Full Text] [Related]

  • 17. Growth Pattern of Kidney Cyst Number and Volume in Autosomal Dominant Polycystic Kidney Disease.
    Bae KT, Zhou W, Shen C, Landsittel DP, Wu Z, Tao C, Chapman AB, Torres VE, Yu ASL, Mrug M, Bennett WM, Harris PC, Consortium for Radiologic Imaging Studies of Polycystic Kidney Disease (CRISP).
    Clin J Am Soc Nephrol; 2019 Jun 07; 14(6):823-833. PubMed ID: 31088850
    [Abstract] [Full Text] [Related]

  • 18. A comprehensive search for mutations in the PKD1 and PKD2 in Japanese subjects with autosomal dominant polycystic kidney disease.
    Kurashige M, Hanaoka K, Imamura M, Udagawa T, Kawaguchi Y, Hasegawa T, Hosoya T, Yokoo T, Maeda S.
    Clin Genet; 2015 Mar 07; 87(3):266-72. PubMed ID: 24611717
    [Abstract] [Full Text] [Related]

  • 19. A novel PKD1 variant demonstrates a disease-modifying role in trans with a truncating PKD1 mutation in patients with autosomal dominant polycystic kidney disease.
    Ali H, Hussain N, Naim M, Zayed M, Al-Mulla F, Kehinde EO, Seaburg LM, Sundsbak JL, Harris PC.
    BMC Nephrol; 2015 Mar 01; 16():26. PubMed ID: 25880449
    [Abstract] [Full Text] [Related]

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